[Physiopathology of primary hyperlipidemias]

The authors review the present status of our knowledge of the physiopathology of primary hyperlipidaemia. The mechanisms of familial hypercholesterolaemia (reduction in the number of LDL receptors on the surface of hepatic and extrahepatic cells) and of type III hyperlipidaemia (an apo E abnormality associated with another metabolic disorder) are relatively well known. However, the physiopathology of the other hyperlipidaemias remains obscure: polygenic hypercholesterolaemia probably due to a disorder of hepatic LDL receptors; combined familial hyperlipidaemia probably due to abnormally high hepatic apo B synthesis; hyperlipidaemia related to defective chylomicron catabolism in which the lipase system plays a central role and hypertriglyceridaemia caused by an association of genetic and environmental factors.